P. Mark

发表

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

H. Hakonarson, R. Stevenson, C. Schwartz, 2019, Clinical Epigenetics.

Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships

P. Mark, R. Baker, J. Priestley, 2018, American journal of medical genetics. Part A.

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort

B. Warner, E. Ullah, L. Huryn, 2020, American journal of medical genetics. Part A.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature Genetics.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

B. V. van Bon, R. Pfundt, G. Carvill, 2021, American journal of human genetics.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Mutation update for the SATB2 gene

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy

P. Mark, 2022, American journal of medical genetics. Part A.

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2022, medRxiv.

Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions

C. Haldeman-Englert, A. Fryer, E. Kirk, 2013, American journal of medical genetics. Part A.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in Medicine.

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

J. Mandel, G. Mancini, M. V. van Slegtenhorst, 2017, American journal of human genetics.

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

Elena B. Riel, M. Hurles, E. Carpenter, 2022, Nature Genetics.

Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

M. Tekin, B. Lorenz, D. Milewicz, 2018, Genetics in Medicine.

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019, American journal of medical genetics. Part A.

heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST 1 H 1 E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019 .

Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6

H. Sticht, C. Zweier, Antje Wiesener, 2022, Clinical genetics.

Lethal renal anomalies in a fetus with 21q22.11‐q22.12 deletion

P. Mark, Kathleen Dinh, 2020, American journal of medical genetics. Part A.

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

James N. Hughes, D. Sillence, M. Brown, 2017, The New England journal of medicine.

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three‐generation family

D. Weaver, P. Mark, R. Lachman, 2011, American journal of medical genetics. Part A.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

Deborah L. Levy, Gregory M. Cooper, Brian L. Browning, 2010, Nature Genetics.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

D. MacArthur, W. Chung, J. Lupski, 2021, Genetics in Medicine.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

H. Hakonarson, R. Stevenson, C. Schwartz, 2019, Clinical Epigenetics.

Mutation update for the SATB 2 gene

Adeline, Marc S. Williams, E. Roeder, 2019 .

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

Viewing teratogens through the lens of nicotinamide adenine dinucleotide (NAD+)

S. Dunwoodie, P. Mark, 2022, Birth defects research.

Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea

Elena B. Riel, M. Hurles, E. Carpenter, 2021, medRxiv.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

T. Mazza, H. Van Esch, H. Kayserili, 2016, Journal of Medical Genetics.

Two cases of different genetic variants of alveolar capillary dysplasia associated with left-sided obstructive CHDs

P. Mark, E. O. Aregullin, Josue Diaz-Frias, 2021, Cardiology in the Young.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34

F. Alkuraya, H. Kearney, V. Capra, 2019, Human mutation.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

SLC6A1 G443D associated with developmental delay and epilepsy

J. Prokop, P. Mark, S. Devries, 2020, Cold Spring Harbor molecular case studies.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2023, Nature communications.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.

Uniparental disomy for chromosome 16 in humans.

S. Langlois, I. Yam, D. R. Wilson, 1993, American journal of human genetics.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2021, Nature Genetics.

Flow cytometric DNA analysis of placental-site trophoblastic tumors.

H. Michael, G. Sutton, P. Mark, 1992, International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

T. Mazza, H. Van Esch, H. Kayserili, 2016, Journal of Medical Genetics.